Tests by Medical Specialty
Inherited Oncological Diseases

Early diagnosis of all types of cancer is extremely important for prevention of the disease onset and to choose the right treatment. Not all cancers are inherited, but they are all the result of genetic mutations in the genome. In some people, carrying certain genetic variants can significantly increase the risk of developing cancer compared to other individuals in the population.

If you have personal or family history of cancer, genetic testing can help you choose the right treatment and build a plan to prevent you and/or your relatives from developing the disease.

Genetic testing for cancer is recommended in the following cases:

• development of breast cancer, colorectal cancer, etc. before the age of 50 years.

• the presence of more than one type of cancer

• presence of certain types of cancer such as ovarian cancer, pancreatic cancer, metastatic prostate cancer, triple-negative breast cancer, breast cancer in men and others.

• more than 10 gastrointestinal polyps, etc.

LGD offers genetic tests to diagnose the following types of cancers:

  • Hereditary Breast and Ovarian Cancer (HBOC)
  • Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
  • Hereditary Gastrointestinal Tumors
  • Familial adenomatous polyposis (FAP)
  • Hirschsprung's disease
  • Multiple Endocrine Neoplasia (MEN)
  • Li-Fraumeni syndrome
  • Familial prostate cancer
  • Hematologic Oncologic Diseases
  • Hereditary Paraganglioma / Pheochromocytoma / PGL / PCC syndrome
  • Hereditary syndromes associated with tumors of the CNS, PNS
  • RASopathies, Genetic syndromes resulting of mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway
  • Мedulloblastoma
  • Sarcoma
  • Hereditary Neuroblastoma
  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
Test 1.
6 recurrent mutation of BRCA1 and BRCA2 genes in Bulgarian population
Test 2.
Germline mutations in the BRCA1 and BRCA2 genes
Test 3.
Somatic mutations in the BRCA1 and BRCA2 genes
Test 4.
Large deletion/insertion rearrangements in the BRCA1 gene
Test 5.
Large deletion/insertion rearrangements in the BRCA2 gene
Test 6.
Detection of homologous recombination deficiency (HRD)
Test 7.
Cancer panel of 31 genes associated with HBOC
Test 8.
Microsatellite instability of a panel of 10 markers (normal sample/tumor)
Test 9.
Mutations in 38 colorectal cancer associated genes
Test 10.
HNPCC (Lynch syndrome) - Mutations in MLH1 gene
Test 11.
HNPCC (Lynch syndrome) - Mutations in MSH2 gene
Test 12.
HNPCC (Lynch syndrome) - Mutations in MSH6 gene
Test 13.
Large deletions/ insertions and rearrangements in MLH1 and MSH2 genes
Test 14.
A panel of 5 genes associated with HNPCC
Test 15.
Mutation in 43 associated genes with hereditary gastrointestinal tumors, colorectal and stomac cancer or polyps developmental risk
Test 16.
Mutations in exon 16 of APC gene
Test 17.
Mutations in APC gene (excluding exon 16)
Test 18.
Mutations in APC gene
Test 19.
Large deletions/ insertions and rearrangements in APC gene
Test 20.
Mutations in RET gene
Test 21.
Mutations in MEN1 gene
Test 22.
Mutations in exons 10, 11, 13, 14, 15, 16 of RET gene (covering 90% of the known mutations)
Test 23.
Mutations in all exons of RET gene (excluding exons 10, 11, 13, 14, 15, 16)
Test 24.
Mutations in RET gene
Test 25.
Mutations in TP53 gene
Test 26.
Large deletions/ insertions and rearrangements in TP53 gene
Test 27.
A panel of 35 genes associated with prostate cancer
Test 28.
A panel of 321 genes associated with hematologic oncologic diseases
Test 29.
Mutations in 20 genes associated with Hereditary Paraganglioma/ Pheochromocytoma
Test 30.
Mutations in 36 genes associated with CNS/ PNS tumors
Test 32.
Mutations in 16 medulloblastoma associated gene panel
Test 33.
Mutations in 10 sarcoma associated gene panel
Test 34.
Mutation in 2 associated with hereditary neuroblastoma gene panel (ALK and PHOX2B)
Test 35.
Analysis of deep intronic variants
Test 36.
Analysis of the NF1 gene for large deletions / insertions and rearrangements
Test 37.
Analysis of the NF2 gene for large deletions / insertions and rearrangements
Neurological Epilepsy

Hereditary neurological diseases are a broad group of diseases, but primarily include disorders of muscle control and movement (including convulsions, poor coordination and muscle weakness), delayed neuropsychological development and/or varying degrees of intellectual disability, nervous system degeneration, and cognitive and behavioral problems.

For instance, epilepsy is a disease associated with a disorder in the generation and propagation of the nerve impulses in the brain. This might be due to mutations in various genes encoding potential- and/or ligand-dependent ion channels in the brain, enzymes and proteins associated with the metabolism of various substances in the nerve cell, etc. Some more severe epileptic encephalopathies may lead to a gradual decline in neuropsychological development after the onset of seizures.

Some epilepsies may result from mutations in enzymes involved in a specific metabolic pathway (e.g. pyridoxal phosphate-dependent epilepsy, folate deficiency, creatine metabolism disorders, etc.). Epilepsy can be a hereditary or sporadic condition.

LGD offers genetic tests associated with the following epileptic conditions:

  • Epilepsy with febrile seizures, GEFS + and Dravet syndrome
  • Epilepsy with benign neonatal and neonatal-infantile seizures and early onset epileptic encephalopathy
  • Childhood absence epilepsy and GLUT1 deficiency
  • Epileptic encephalopathies
  • Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
  • Epilepsy and epileptic syndromes - extended panel
  • Мigraine
  • Syndromic intellectual deficit and neurodevelopmental disorders
  • Autism
Test 39.
Deletions/duplications and rearrangements of SCN1A gene
Test 40.
Mutations, deletions/duplications and rearrangements in SCN1A gene
Test 44.
Mutations in SLC2A1(GLUT1) gene
Test 45.
Deletions/duplications and rearrangements in SLC2A1(GLUT1) gene
Test 46.
Mutations and deletions/duplications and rearrangements in SLC2A1(GLUT1) gene
Test 47.
Mutations in 516 epileptic encephalopathies associated genes
Test 48.
Mutation in 84 autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) genes
Test 49.
Mutations in 1089 epilepsy and epileptic syndromes associated genes
Test 50.
Mutations in 24 nuclear encoded genes
Test 51.
Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation
Test 52.
Mutations in 1131 autistic associated genes
Neurodegenerative Diseases

Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative diseases characterized by muscle weakness and spasticity that gradually worsen over time. Ataxic conditions most often affect balance, coordination and speech. Many types of ataxia are inherited diseases. Symptoms usually include tremor, gait problems, and muscle weakness that slowly worsen over time.

Disorders of neurocognitive and muscular function in adulthood include symptoms such as muscle weakness, rigidity, impaired movement, coordination, tremors, impaired hearing and vision, speech, and mental disorders. Such diseases can lead to difficulties in making an accurate diagnosis, as well as uncertainty about whether they are hereditary or not, and whether they carry a risk of developing the disease in direct relativesGenetic analysis can help diagnose such patients and assess the risk of developing the disease in other family members. 

Any degree of significant decline in cognitive function (isolated or part of a syndrome) in early childhood could have a genetic component. Such conditions are, for example, general and neuropsychological developmental delay, intellectual disability, autism spectrum disorders. According to the literature, a huge number of genes play a role in the development of various cognitive disorders, which makes accurate diagnosis an extremely difficult task. Genetic testing could help overcome this problem.

 LGD offers a genetic diagnosis of the following genetically determined ataxic conditions: 

  • Hereditary spastic paraplegia
  • Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia
  • Hereditary Motor-Sensory Neuropathies
  • Hereditary Ataxias
  • Cerebellar hypoplasia
  • Arthrogryposis
  • Neuromuscular diseases
  • Alzheimer's disease
  • Parkinson's disease
  • Dementia
  • Frontotemporal degeneration
  • Amyotrophic lateral sclerosis
  • Amyotrophic lateral sclerosis/ Frontotemporal degeneration
  • Motor disorders
  • Leukodystrophy with childhood-onset
  • Leukodystrophy with brain calcifications
  • Leukodystrophy with late-onset
  • Congenital hypotension
Test 53.
Mutations in SPG4 gene
Test 54.
Mutations in 111 hereditary spastic paraplegia associated genes
Test 56.
Mutations in 281 genes associated with hereditary motor and sensory neuropathies
Test 57.
Mutations in 661 genes associated with ataxia and syndromes and diseases, which include symptoms of ataxia
Test 58.
Mutations in 68 cerebellar hypoplasia associated genes
Test 59.
Mutations in 288 arthrogryposis associated genes
Test 60.
Mutations in 496 neuromuscular disease associated genes
Test 61.
APOE E2/E3/E4 allele genotyping
Test 62.
A panel of 40 genes associated with AD
Test 63.
A panel of 86 genes associated with PD
Test 64.
A panel of 47 dementia associated genes
Test 65.
A panel of 23 genes associated with FTD
Test 66.
A panel of 82 genes associated with ALS
Test 67.
Copy number varioations in C9orf72
Test 68.
Mutations in 1360 genes associated with chorea, dystonia and other movement disorders
Test 69.
Mutations in 2938 genes associated with childhood onset leukodystrophy
Test 70.
Mutations in 232 genes associated with leukodystrophy with brain calcifications
Test 71.
Mutations in 84 genes associated with late-onset leukodystrophy
Test 72.
Mutations in 2981 genes, associated with genetic diseases of the CNS and peripheral neuropathies in childhood
Ocular Diseases

Ophtalmological diseases can result from inherited genetic changes leading to neonatal blindness (eg, Leber's congenital amaurosis), childhood (early-onset retinitis pigmentosa), and adults (age-dependent macular degeneration). Mutations in genes associated with normal vision can also cause blind spots, blurred and impaired vision, impaired color perception, and difficulty in light adaptation of the eye. To date, more than 400 genetic eye diseases are known, which are characterized by specific symptoms. Accurate diagnosis is extremely important in such patients in order to receive timely treatment and prevention, as well as to establish the disease heredity in the family. 

LGD offers genetic diagnosis of the following ocular diseases:

  • Macular degeneration
  • Glaucoma
  • Cone-rod retinal degeneration
  • Leber hereditary optic neuropathy
  • Retinal pigment degeneration
  • Usher syndrome type 2
  • Bardet-Biedl syndrome
  • Congenital stationary night blindness
  • Retinoschisis
  • Retinoblastoma
  • Cataract
Test 75.
Mutations in a panel of 14 genes associated with Stargardt disease
Test 77.
Mutations in a panel of 30 genes associated with macular degeneration
Test 78.
Mutations in CYP1B1 gene
Test 79.
Mutation p.R299X in LTBP2 gene
Test 80.
Mutations in MYOC gene
Test 81.
Mutations in 25 genes associated with glaucoma
Test 82.
Mutations in CRX and GUCY2D genes and exon 15 in RPGR-ORF15 gene
Test 83.
Mutations in ABCA4 gene – coding and non-coding regions
Test 84.
Large deletions/insertions in the ABCA4 gene
Test 85.
Mutations in 42 genes, associated with cone-rod retinal degeneration
Test 86.
Mutations in RPE65 gene
Test 87.
Mutations in CRX, IMPDH1 и OTX2 genes
Test 88.
Mutations in 26, associated with Leber congenital amaurosis
Test 89.
Mutations in 3 mitochondrial genes- MT-ND1, MT-ND4 и MT-ND6
Test 90.
Mutations in RHO, PRPH2/RDS, PRPF31 and IMPDH1 genes and exon 15 in RPGR-ORF15 gene
Test 91.
Mutations in USH2A, CRB1 и RHO genes and exon 15 in RPGR-ORF15 gene
Test 92.
exon 15 in RPGR-ORF15 gene
Test 93.
Mutations in RPE65 gene
Test 95.
Large deletions/insertions in the RHO, IMPDH1, RP1 and PRPF31 genes
Test 96.
Large deletions/insertions in the USH2A
Test 97.
Large deletions/insertions in EYS gene
Test 98.
Mutations in 341 genes, associated with Retinitis pigmentosa
Test 99.
Mutations in 341 genes assotiated with retinal degeneration
Test 100.
Mutations in USH2A gene
Test 101.
Large insertions/deletions in USH2A gene
Test 102.
Mutations in 27 genes associated with Bardet-Biedl syndrome
Test 103.
Mutations in 14 genes associated with Congenital stationary night blindness
Test 104.
Mutations in RS1 gene
Test 105.
Mutations in RB1 gene
Test 106.
Hot-spot mutations in RB1 gene (exons 8,10,11,14,15,17,18,23)
Test 107.
Mutations in 90 genes associated with cataract
Ear Diseases

Hearing loss (deafness) is the most common birth defect and the most common sensory disease in developing countries. Over 50% of cases of hearing loss are due to genetic factors. Along with deafness, disorders of the vestibular apparatus are also observed. There are over 100 genes associated with congenital hearing loss, but the most common cause are mutations in a single gene that cause only deafness. There is also a syndromic deafness, which manifests along with affected vision and skin.

LGD offers genetic diagnosis of:

  • Hereditary and sporadic nonsyndromic neurosensory hearing loss
  • Sensorineural hearing loss and Wolfram syndrome type 1
Test 110.
Mutations in 4 mitochondrial genes- MT-RNR1, MT-TS1 , MT-TL1 , MT-TK
Test 111.
Mutations in 594 genes associated with hearing loss
Test 112.
Large deletions and duplications in GJB2, GJB3, GJB6, WFS1, POU3F4 and detection of 6 mutations in GJB2 гена (c.313del14, c.235delC, c.167delT, c.101T>C, c.35delG и IVS1+1G>A)
Kidney Diseases

Kidney diseases are a large group of pathological conditions and include variety of symptoms - renal failure, hematuria, proteinuria, back pain, hypertension and others. One of the genetic syndromic diseases characterized by severe renal failure in early childhood are congenital anomalies of the urinary system, which include renal polycystosis, renal agenesis and dysplasia, etc. To date, more than 200 genes have been associated with congenital abnormalities of the urinary system. Another example of a wide range of kidney diseases is steroid-resistant nephrotic syndrome, which often goes undiagnosed in early childhood. If congenital kidney disease is suspected, the genetic test can help make an early diagnosis, which will give the right direction for subsequent treatment, as well as appropriate prevention and lifestyle.

LGD offers genetic diagnosis of the following kidney dieseases:

  • Cortico-resistant nephrotic syndrome
  • Congenital anomalies of the urinary system
  • UMOD-associated nephropathy
  • Ciliopathies
Test 113.
Screening for mutations in the coding regions of NHPS1 and NPHS2 genes as well as exons 8 and 9 of WT1 gene
Test 114.
mutations in 26 genes associated with nephrotic syndrome
Test 115.
Screening for mutations in the coding regions of HNF1B and PAX2 genes
Test 116.
Screening for mutations in the coding regions of 214 CAKUT associated genes
Test 117.
Screening for large deletions/duplications affecting the HNF1B gene
Test 118.
Screening for mutations in the coding regions of UMOD gene
Test 119.
Mutation panel 250 genes
Endocrinological and Liver Diseases

The endocrine system is a network of endocrine glands that produce and secrete hormones - substances that regulate a number of important body processes (energy metabolism of cells, heart activity, growth and development of the musculoskeletal system, reproductive abilities, etc.). The endocrine system plays a vital role in the development of diseases such as diabetes, thyroid disease, growth disorders, sexual dysfunction and others. Most of them are the result of the production of too much or too little of the corresponding hormone - a condition called hormonal imbalance. Hormonal imbalance could be the result of impaired glandular function to stimulate hormone production by another gland - for example, dysfunction of the hypothalamus interrupts the production of growth hormone in the pituitary gland. Hormonal imbalance could be the result of mutations in various genes associated with the production and secretion of a hormone (s).

Some examples of genetic endocrine and liver diseases are:

Cushing's syndrome - due to hyperactivity of the pituitary gland (high levels of adrenocorticotropic hormone), which leads to overproduction of hormones by the adrenal glands (high levels of cortisol). Symptoms include musculoskeletal disorders (muscle weakness, back and lower back pain, easy bone fragility), skin problems, growth problems in children, decreased libido in men, chronic fatigue, headaches, etc.

Multiple endocrine neoplasia (MEN) - a rare genetic disease characterized by the appearance of multiple tumors of the parathyroid glands, adrenal glands, thyroid gland, leading to overproduction of hormones.

Maturity Onset Diabetes of the Young (MODY) - a hereditary autosomal dominant disease associated with impaired insulin production. It differs from the other two types of type I and II diabetes in the pathomechanism of the disease and number of genes affected. There are about 11 subtypes of MODY, each of which is a monogenic disease, ie. the reason for its manifestation is a mutation in a single gene.

Disorders of glycogen metabolism (glycogenosis) - metabolic liver diseases affecting genes encoding various enzymes responsible for the synthesis and breakdown of glycogen, as well as its storage in liver cells.

 LGD offers genetic diagnosis of the following endocrinological diseases: 

  • Endocrine diseases
  • Congenital hypopituitarism
  • Congenital hypothyroidism
  • Isolated growth hormone deficiency
  • Congenital adrenal hyperplasia (21 hydroxylase deficiency)
  • Maturity-onset diabetes of the young (MODY)
Test 120.
Mutations in 810 genes associated with endocrine diseases
Test 121.
Mutations in 10 genes associated with pituitary gland diseases
Test 122.
Mutations in 24 genes associated with thyroid gland diseases
Test 123.
Mutations in TPO gene
Test 124.
Large deletions/ insertions and rearrangements in TPO, PAX8, FOXE1, NKX2-1 и TSHR genes
Test 125.
Mutations in GH1 gene
Test 126.
Mutations in 10 genes associated with IGHD
Test 128.
Large deletions/ insertions and rearrangements in HNF4A, GCK, HNF1A and HNF1B genes
Test 129.
Mutations in HNF1B gene
Test 130.
Mutatins in 15 genes associated with MODY
Cardiovascular Diseases

In some cases, a pathogenic genetic variant is the cause of developing cardiovascular disease. Hereditary heart disease can affect several members of the same family. Genetic testing is recommended when you or a family member has been diagnosed or suspected of having congenital heart disease, cardiomyopathy, aortic disease, genetically determined hypercholesterolemia and high blood pressure, pulmonary hypertension, and more.

LGD offers the following tests for the diagnosis of congenital cardiovascular diseases:

  • Cardiological diseases
Test 131.
Mutations in 536 genes associated with inherited cardiovascular diseases
Mitochondrial and Metabolic Diseases

Inborn errors of metabolism are a heterogeneous group of diseases that may be inherited or result from a spontaneous mutation in a gene responsible for the synthesis, degradation or storage of a metabolite (carbohydrates, proteins, fatty acids). Although they belong to the group of the rare diseases, their incidence is 1 in 2,500 live births, making them relatively common. Most of them are transmitted by an autosomal recessive mechanism, but autosomal dominant or X-linked pattern of inheritance are also observed. Epigenetic, microbiome, and environmental factors also play an important role in the development of inborn errors of metabolism. LGD offers tests involving genes, mutations in which cause a variety of diseases such as aminoacidopathies, organic aciduria, urea cycle disorders, porphyria, disorders in the metabolism of certain metals and others. Metabolic diseases affect specific processes occurring in different organelles in the cell, such as glycosylation of various substrates, cholesterol biosynthesis, peroxisome, lysosomal metabolism and others.

Mitochondrial diseases belong to the metabolic disorders and are the second most common after cancer, this group of diseases affects 1/8000 live births. In these diseases the genetic material (DNA) of the mitochondria (the energy centers of the cell) is affected. They can be passed down through the generations and can manifest either in early childhood or later as a result of the accumulation of mitochondria with multiple DNA mutations. The symptoms are diverse, mostly organs and systems with high energy requirements are affected - brain (epileptic seizures, intellectual disability), sensory systems (optic nerve damage, hearing loss), heart (heart attack).

To date, there is no cure for mitochondrial diseases, but there are prophylactic approaches, including a special diet, depending on the specific disease, that improve the symptoms in such patients. Genetic testing is recommended in the presence of the following symptoms: developmental delay of the child, abnormalities of variety of organs and systems, cardiomyopathy and unexplained heart block, arrhythmia, high levels of serum lactate and cerebrospinal fluid, abnormal neuroimaging results, ophthalmoplegia or ptosis , hearing loss, etc.

LGD offers genetic diagnosis of a large group of mitochondrial and metabolic disorders through two molecular genetic approaches:

  • Mitochondrial diseases
Test 132.
Mutations in 37 mitochondial genes associated with mitochondrial diseases
Test 133.
Mutations in 266 nuclear genes associated with mitochondrial diseases
Connective Tissue Diseases

Genetic diseases of the connective tissue cause disorders in the growth and proper construction of bones and joints. There are a number of genes involved in inherited connective tissue diseases and mutations in the same gene may have different clinical manifestations in different people. One of the well-characterized connective tissue diseases is Marfan's syndrome. It is inherited by an autosomal dominant mechanism, with 75% of the associated variants currently being inherited from an affected parent, while 25% are de novo.

Other connective tissue diseases are homocystinuria, Ehlers-Danlos syndrome, osteogenesis imperfecta and others. 

LGD offers the following genetic tests for connective tissue disorders:

  • Connective tissue diseases
  • Marfan syndrome and Marfan-like diseases
  • Skeletal dysplasias
Test 134.
Mutations in panel of 224 genes
Test 135.
Mutations in panel of 113 genes
Test 136.
Mutations in panel of 597 genes
Liver
  • Liver diseases
Test 137.
Mutations in panel ot 204 genes
Immune system
  • Immune diseases
Test 138.
Mutations in panel of 801 genes
Hematological Diseases

Most hematological diseases have a genetic component, which determines the importance of genetic testing in such diseases. So far, genetic variants associated with hematological diseases in over 200 different genes have been identified. These genes are linked to coagulation disorders such as haemophilia, thrombophilia, thrombocytopenia, hereditary hemorrhagic telangiectasia, defects in various coagulation factors and other platelet-related diseases.

Other congenital hematological defects affect erythrocytes (spherocytosis, erythrocytosis, enzyme defects) and cause anemia (sideroblastic, hypochromic, macro- and microcytic, etc.), megaloblastic anemia and disorders in cobalamin synthesis, hemochromatosis and different hemoglobinopathies. Other severe hematological diseases associated with defects in bone marrow formation are Fanconi's anemia, aplastic anemia, congenital dyskeratosis, Diamond-Blackfan anemia, Shwachman-Diamond syndrome. The laboratory offers gene panels containing a combination of genes associated with hematological diseases, selected at the customer’s request.

  • Hematological diseases
Test 139.
Mutation is panel of 456 genes
Others
  • Syndromic and non-syndromic diseases with dermatological symptoms
  • Reproductive panel - women
  • Reproductive panel - men
  • Metabolic diseases
  • Gorlin Goltz syndrome
Test 141.
Mutations in panel of 212 genes
Test 142.
Mutations in panel of 209 genes
Test 143.
Mutations in panel of 1012 genes
Test 144.
Mutations in exons 2, 3, 6, 8, 9, 10, 13, 15 of PTCH1 gene
Test 145.
Mutations in exons 1, 4, 5, 7, 11, 12, 14, 16, 17, 18, 19, 20, 21 22, 23 of PTCH1 gene
Test 146.
Mutations in PTCH1 gene
Biomarkers and Individualized Therapy (pharmacogenomics)

DNA biomarkers are extremely important, as they achieve the choice of the right drug therapy, tailored to the individual patient's response, as well as optimal dosing of the drug applied on the individual (pharmacogenetics), correct diagnosis and prognosis for the outcome of the respective disease. In the context of pharmacogenomics, DNA biomarkers are used to monitor drug pharmacodynamics, as well as to monitor treatment. 

There are three broad groups of biomarkers - diagnostic, predictive and prognostic biomarkers. Diagnostic biomarkers help to make appropriated diagnosis of the disease, as well as with establishing its severity. Predictive biomarkers predict the response to a therapy, its effectiveness and safety. They can be used to measure the effectiveness of the drug in the course of therapy (optimization of therapy through monitoring). Prognostic biomarkers predict the most likely outcome of a given condition under standardized treatment conditions. They differ from predictive ones in that they are not associated with the patient's response to a drug.

LGD offers analysis of the following DNA biomarkers:

  • Prognostic markers in tumors of the central nervous system
  • Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc.
  • Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
  • Diagnostic marker for the presence of DICER1 syndrome
  • Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
  • Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.)
  • Predictive marker for targeted therapy in chronic lymphocytic leukemia/CLL/
  • Chronic lymphocytic leukemia / CLL / predictive marker for targeted therapy
  • Optimization of the therapy with the indirect anticoagulant acenocoumarol (Syntrome)
  • Optimization of platelet antiplatelet therapy clopidogrel (Plavix)
  • Optimization of methotrexate therapy
  • Optimization of therapy with the anti-tuberculosis drug isoniazid in pulmonary tuberculosis
  • Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine
  • Minimal residual disease in patients with neuroblastoma
  • Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)
  • Slow metabolizers by CYP2C9
  • Slow metabolizers by CYP2C19
  • Slow metabolizers by CYP2D6
  • Diagnostic markers in brain, rhabdoid, solid and other tumors
  • Carrier Analysis of Variants Associated with Reproductive Disadvantages
Test 147.
mutaions in exon 4 of IDH1 gene and exon 4 of IDH2 gene
Test 148.
Large deletions/ insertions and rearrangements in chromosome 1p/19q
Test 149.
large deletins/duplications rearrangements PDGFRA, EGFR, CDKN2A, PTEN, CDK4, MIR26A2, MDM2, NFKBIA and TP53 genes
Test 152.
Mutation in promoter region of TERT gene
Test 154.
Mutations in exon 1 of HIST1H3B and HIST1H3C genes.
Test 156.
Mutations in exons 8, 9, 11, 13, 14, 17 and 18 of сKIT gene
Test 158.
Mutations in exons 9 and 11 of сKIT gene, and mutations in exon 18 of PDGFRA gene
Test 159.
Mutations in exons 8, 13, 14, 17 and 18 of сKIT gene, exons 12 and 14 of PDGFRA gene and exon 15 of BRAF gene
Test 162.
Duplications/ deletions of 17p13 (TP53 gene), 13q14 (RB1/DLEU/MIR15A-region), 11q22 (ATM, trisomy 12)
Test 163.
3 polymorphisms in CYP2C9 and VKORC1 genes (CYP2C92, CYP2C93, VKORC1-1639G>A)
Test 164.
2 polymorphisms in CYP2C9 gene (CYP2C19*2, CYP2C19*17)
Test 165.
5 polymorphic variants in MTHFR and ABCB1 genes
Test 167.
Variants DPYD∗2A, DPYD∗13, c.2846A>T, and c.1236G>A.
Test 168.
Panel of two (TH and PHOX2B) expression markers in patients with Neuroblastoma
Test 169.
17 variants in the gene TPMT (TPMT *2, TPMT *3A, TPMT *3B, TPMT *3C, TPMT *3D, TPMT *4, TPMT* 6, TPMT *8, TPMT *9, TPMT*10, TPMT *11, TPMT *12, TPMT *13, TPMT *16, TPMT *17, TPMT *18, TPMT *24)
Test 170.
18 variants in NUDT15 gene (NUDT15 *2, NUDT15 *3, NUDT15*4, NUDT15*5, NUDT15*6, NUDT15*7, NUDT15*8, NUDT15*9, NUDT15*10, NUDT15*11-NUDT15*19)
Test 171.
CYP2C9*2 ( rs1799853, c.430C>T) CYP2C9*3(rs1057910,c.1075A>C)
Test 172.
CYP2C19*2 ( rs4244285, c.681 G>A) CYP2C19*3 ( rs4986893, c.636G > A)
Test 173.
CYP2D6*3 ( rs35742686, 2550 Del A) CYP2D6*4 ( rs3892097, 1846G > A)
Test 175.
Deletions/duplications in region 22q11.21-q12.2, including TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1(INI1), SNRPD3, SEZ6L, NIPSNAP1 genes
Test 177.
Variants rs6165 and rs6166 in exon 10 of FSHR gene
Next generation sequencing - Panels
  • Extended gene panel analysis for familial oncological diseases and interpretation
  • Analysis of a panel of genes associated with targeted therapy in solid tumors and interpretation
  • Whole Exome Sequencing (WES) and interpretation of the clinical exome
  • Whole Exome Sequencing (WES) without analysis and interpretation
Test 178.
Mutations in 233 genes associated with oncology diseases
Test 179.
Mutations in 50 genes associated with targeted therapy
Test 180.
Mutations in 5227 genes associated with hereditary diseases
Test 181.
Sequencing of 19 396 RefSeq genes. Read depth: mean coverage >= 50X, guaranteed 85% of bases with quality score >=Q30
Carrier Testing
  • Carrier testing in a family with a known genetic cause of hereditary disease
  • Confirmation analysis of Next Generation Sequencing Gene Mutation (NGS)
Test 182.
Analysis of SINGLE gene mutation in 1 relative
Test 183.
Confirmation Analysis of SINGLE Gene mutation after Next Generation Sequencing (NGS)
Microarray analysis
  • Microdeletion / microduplication syndromes
  • Neurodevelopmental disorders/Autism spectrum disorders
  • Congenital anomalies and malformative syndromes / miscarriages
  • Confirmaton analysis / segregation of aberrations detected by microarray analysis
Test 184.
Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2
Test 185.
Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2
Test 186.
Microarray analysis with Unrestricted HD-CGH array ISCA v2, 4x44K
Test 187.
Large deletions / insertions and rearrangements in known genome regions
Genomic Imprinting Syndromes

Genomic imprinting is a specific influence on the expression of certain DNA genes (whether they are active or not) depending on which parent they are inherited from. To date, more than 100 imprinted genes have been identified. Many of them are related to fetal growth, others determine the behavioral and cognitive characteristics of the individual.

The expression of one copy of the gene depending on which parent is inherited (mono-allelic gene expression) is controlled by specific control regions of DNA (imprinting control regions - ICR), which are marked by the specific addition of methyl groups (DNA methylation) to certain nucleotides from the paternal or maternal DNA copy of the gene.

Disorders of the proper DNA methylation of these ICRs are associated with the manifestation of several syndromic diseases, such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome, associated with abnormal fetal growth. Disorders in genomic imprinting is the cause of other two neuropsychological development syndromes - Prader-Willi and Angelman syndromes.

LGD offers genetic diagnosis associated with the following syndromic diseases:

  • Prader Willi/Angelman syndromes
  • Russell-Silver/Beckwith-Wiedemann syndromes
  • Angelman syndromes
Test 188.
Large deletions/ insertions and rearrangements and methylation profile in genome region 15q11- PWS/AS
Test 189.
Large deletions/ insertions and rearrangements and methylation profile in genome region 11p15BWS/RSS
Test 190.
Mutations in UBE3A gene (exons 8-17)
DNA Banking
  • DNA banking
Test 191.
DNA extraction of 1-3 ml blood
Test 192.
DNA extraction of 4-6 ml blood
Test 193.
DNA extraction of 7-10 ml blood
Test 194.
DNA extracion and storage from fresh/frozen tissue
Test 195.
DNA extracion and storage from FFPE
Test 196.
DNA extracion and storage from 1 ml saliva
Services by request
  • Sequencing at the customer's request
  • Fragment analysis at the customer's request
  • Microarray scanning at the customer's request
  • Microarray scanning and bioinformatics analysis at the customer's request
  • Comprehensive bioinformatics analysis and interpretation of NGS data
  • Genetic counseling, Professor
  • Genetic counseling, Medical doctor
Test 197.
1 fragment up to 700 bases with customer'sprimers
Test 198.
24 fragments up to 700 bases with customer's primers
Test 199.
96 fragments up to 700 bases with customer's primers
Test 200.
1 sample for 1 microsatellite marker and customer's primers
Test 201.
1 sample for 24 microsatellites marker and customer's primers
Test 202.
1 sample for 96 microsatellite markers and customer's primers
Test 205.
Gene panel of 5 227 genes, associated with inhereted diseases
Test 206.
Whole exome - 19 396 RefSeq genes. Read depth - average coverage >=50X, guaranteed >= 85%bases with quality score >=Q30
Test 207.
Clinical interpretation and result, prepared and signed by a medical genetics specialist
Test 208.
Clinical interpretation and result, prepared and signed by a medical genetics specialist
Services With Reagents Provided by Ministry of Health
  • Microarray analysis with reagents provided by the Ministry of Health
  • Clinical exome analysis, confirmation and interpretation, with reagents provided by the Ministry of Health
  • CYP21A2 gene analysis
  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Growth deficiency
  • Chromosomal copy number changes in childhood solid tumors (Neublastoma / rhabdomyosarcoma / Ewing's sarcoma / Wilm's tumor) with reagents provided by the Ministry of Health
Test 211.
1 patient
Test 212.
Analysis of the NF1 gene for large deletions / insertions and rearrangements
Test 213.
Analysis of the NF2 gene for large deletions / insertions and rearrangements
Test 214.
Analysis of the IGF1R gene for large deletions / amplifications
Test 215.
MYCN Amplification Study, Chromosome Aberrations 1, 2, 3, 4, 7, 9, 11, 12, 14, 17